المؤلفون: Maria Luisa Justa, José F. Crespo, Adela Urisarri, Francisco Llamas, Rafael Bedoya, Julia Vara, Gema Ariceta, Juan Antonio Camacho, Enrique Lara, Luis Antonio Jiménez del Cerro, Blanca Valenciano, J. Bravo, Miguel A. Muñoz, Fernando Santos, Rafael Romero, Alberto Bueno, M. Calvo, Víctor García-Nieto, Antonio Daza, Federico Oppenheimer, Carmen Cantarell, Maria José Sanahuja

المساهمون: [Ariceta,G, Lara,E, Cantarell,C] Hospital Universitari Vall d’ Hebron, Barcelona, Spain. [Ariceta,G] Hospital Universitario Cruces, Bilbao, Spain. [Camacho,JA] Hospital Sant Joan de Déu, Barcelona, Spain. [Oppenheimer ,F] Hospital Universitari Clínic, Barcelona, Spain. [Vara,J] Hospital Universitario 12 de Octubre, Madrid, Spain. [Santos ,F] Hospital Universitario Central de Asturias . Universidad de Oviedo, Oviedo, Spain. [Muñoz ,MA] Hospital Universitario Virgen de la Salud, Toledo, Spain. [Gil Calvo,M, Romero,R] Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain. [Valenciano,B] Hospital Universitario Materno-Infantil Las Palmas, Las Palmas de Gran Canaria, Spain. [García-Nieto,V] Hospital Universitario Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain. [Sanahuja,MJ] Hospital Universitario La Fe, Valencia, Spain. [Crespo,J] Hospital Universitario Dr Peset, Valencia, Spain. [Justa,ML] Hospital Universitario Miguel Servet, Zaragoza, Spain. [Urisarri,A] Hospital Arquitecto Marcide, Ferrol, Spain. [Bedoya,R] Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Bueno,A] Hospital Universitario Materno-Infantil, Materno-Infantil Carlos Haya, Málaga, Spain. [Daza,A] Complejo Hospitalario de Torrecárdenas, Almería, Spain. [Bravo,J] Hospital Universitario Virgen de Las Nieves, Granada, Spain. [Llamas,F] Hospital General de Albacete, Albacete, Spain. [Jiménez Del Cerro,LA] Hospital General Universitario de Alicante, Alicante, Spain., This study has been supported by A.C. Nielsen Company S.L.and Orphan Europe S.L.U

المصدر: NEPHROLOGY DIALYSIS TRANSPLANTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nephrology Dialysis Transplantation

مصطلحات موضوعية: Male, Nephrology, Health Knowledge, Attitudes, Practice, Pediatrics, Anatomy::Urogenital System::Urinary Tract::Kidney [Medical Subject Headings], Autocuidado, Cystinosis, España, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Renal Replacement Therapy::Kidney Transplantation [Medical Subject Headings], Disease, Cohort Studies, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], chemistry.chemical_compound, Named Groups::Persons::Parents::Mothers [Medical Subject Headings], Interquartile range, Chronic Kidney Disease, Trasplante de riñón, Named Groups::Persons::Occupational Groups::Health Personnel::Physicians [Medical Subject Headings], adherence, Young adult, Child, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Health Behavior::Patient Compliance [Medical Subject Headings], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Nervous System Physiological Phenomena::Nervous System Physiological Processes::Sensation::Smell [Medical Subject Headings], Pronóstico, transition, Prognosis, Named Groups::Persons::Parents::Fathers [Medical Subject Headings], adherence, cysteamine, cystinosis, prognosis, transition, Child, Preschool, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Transition, Absenteeism, Chemicals and Drugs::Organic Chemicals::Amines::Ethylamines::Mercaptoethylamines::Cysteamine [Medical Subject Headings], Female, Estudios de seguimiento, Cohort study, Adult, medicine.medical_specialty, Adolescent, Cysteamine, Check Tags::Male [Medical Subject Headings], Cistinosis, CLINICAL SCIENCE, Medication Adherence, Young Adult, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis [Medical Subject Headings], Internal medicine, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings], Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Humans, Cooperación del paciente, Named Groups::Persons::Parents [Medical Subject Headings], Cystine Depleting Agents, Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Self Care [Medical Subject Headings], Psychiatry and Psychology::Psychological Phenomena and Processes::Psychology, Applied::Psychology, Industrial::Absenteeism [Medical Subject Headings], Transplantation, business.industry, Infant, Newborn, Infant, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Motivation [Medical Subject Headings], medicine.disease, Self Care, chemistry, Spain, Adherence, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Emotions [Medical Subject Headings], Absentismo, Cisteamina, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis [Medical Subject Headings], Olfato, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c392862db09ec5148d59d6094e5972dTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8233Test

المؤلفون: Lourdes Sánchez-Salido, Francisco Garcia-Guirado, Yolanda de Diego-Otero, Ignacio del Arco-Herrera, Rafaela Caballero-Andaluz, Teresa Ferrando-Lucas, Carolina Quintero-Navarro, Isabel Fernandez-Carvajal, Lucía Pérez-Costillas, R. Calvo-Medina

المساهمون: [de Diego-Otero,Y, Quintero-Navarro,C, Sánchez-Salido,L, García-Guirado,F, Pérez-Costilla,L] Unidad de Gestión Clínica de Salud Mental, Hospital Regional Universitario de Málaga. Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. [Calvo-Medina,R] Unidad de Gestión Clínica de Pediatría, Hospital Regional Universitario de Málaga, Málaga, Spain. [del Arco-Herrera, I ] Infobiotic, Málaga, Spain. [Fernández-Carvajal,I] Unidad de Genética Molecular de la Enfermedad, Instituto de Biología y Genética Molecular (IBGM)-CSIC-Universidad de Valladolid, Valladolid, Spain. [Ferrando-Lucas,T] Servicio de Neuropediatría, Hospital Quirón, Madrid, Spain. [Caballero-Andaluz,R] Departamento de Psiquiatría, Facultad de Medicina, Universidad de Sevilla, Sevilla, Spain. [Pérez-Costilla,L] Departamento de Psiquiatría, Facultad de Medicina, Universidad de Málaga, Málaga, Spain. [[Diego-Otero, Y de] Unidad de Gestión Clínica de Salud Mental, Hospital Regional Universitario de Málaga, Laboratorio de Investigación, Málaga, Spain., the Spanish Ministry of Health, Research Funds from FEDER-EU (TRA152, EC10-191 and EC11-434), the Health Department of the Andalusian Regional Government (PI09-0507), the Economic Innovation and Science Regional Government (CTS546 and P10-CTS-05704) and the Jerome Lejeune Foundation (Paris, France)., Ministerio de Sanidad, Servicios Sociales e Igualdad (España), European Commission, Junta de Andalucía, Jérôme Lejeune Foundation

المصدر: Trials
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Male, Pediatrics, Síndrome del cromosoma X frágil, Time Factors, Phenomena and Processes::Physical Phenomena::Time::Time Factors [Medical Subject Headings], España, alpha-Tocopherol, Placebo-controlled study, Medicine (miscellaneous), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Methods::Research Design [Medical Subject Headings], Child Behavior, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Pilot Projects, Ascorbic Acid, Alfa-tocoferol, Antioxidants, Trial, law.invention, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Antioxidants [Medical Subject Headings], Study Protocol, Child Development, Cognition, Randomized controlled trial, Clinical Protocols, law, Chemicals and Drugs::Pharmaceutical Preparations::Drug Combinations [Medical Subject Headings], Pharmacology (medical), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Clinical Protocols [Medical Subject Headings], Masculino, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Wechsler Scales, Wechsler Adult Intelligence Scale, Experimental treatment, Checklist, Fragile X syndrome, Drug Combinations, Treatment Outcome, Research Design, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Child Behavior [Medical Subject Headings], Ácido ascórbico, Clinical psychology, medicine.medical_specialty, Adolescent, Phenomena and Processes::Physiological Phenomena::Physiological Processes::Growth and Development::Human Development::Child Development [Medical Subject Headings], Check Tags::Male [Medical Subject Headings], Double-Blind Method, Rating scale, medicine, Chemicals and Drugs::Biological Factors::Biological Markers [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders::Sex Chromosome Disorders::Fragile X Syndrome [Medical Subject Headings], Humans, Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Data Collection::Checklist [Medical Subject Headings], Psychiatry and Psychology::Behavior and Behavior Mechanisms::Human Development::Adolescent Development [Medical Subject Headings], Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis::Treatment Outcome [Medical Subject Headings], Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Cognition [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Pilot Projects [Medical Subject Headings], business.industry, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Adolescent Behavior [Medical Subject Headings], Adolescent Development, medicine.disease, Ascorbic acid, Clinical trial, Adolescent Behavior, Spain, Oxidative stress, Data_GENERAL, Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Benzopyrans::Vitamin E::Tocopherols::alpha-Tocopherol [Medical Subject Headings], Fragile X Syndrome, Autism, Psychiatry and Psychology::Behavioral Disciplines and Activities::Psychological Tests::Aptitude Tests::Intelligence Tests::Wechsler Scales [Medical Subject Headings], Resultado del tratamiento, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940cfa245747909aca12b5b601872c9fTest
https://pubmed.ncbi.nlm.nih.gov/25187257Test

المؤلفون: María-Teresa Calvo, Elizabet Pintado, Yolanda de Diego-Otero, Jordi Rosell, G. Glover, Francisco Martínez, María-Antonia Ramos-Arroyo, Montserrat Milà, Carmen Ayuso, Isabel Fernandez-Carvajal, Miriam Guitart, Concepción Hernández-Chico, Maria-Isabel Tejada, Feliciano J. Ramos, Hiart Maortua

المساهمون: Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Asociación Girmogen (España), [Tejada,MI, Maortua,H] Laboratorio de Genetica Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, Bizkaia, Spain. [Glover,G] Unidad de Genetica Molecular, Centro de Bioquímica y Genetica Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain. [Martínez,F] Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain. [Guitart,M] Laboratorio de Genetica, UDIAT-Centre Diagnóstic, Corporaciò Sanitária Parc Taulí, Institut Universitari UAB, Sabadell, Barcelona, Spain. [Diego-Otero,Y de] Unidad de Gestion Clínica de Salud Mental, Hospital Regional Universitario de Malaga, Instituto de Investigacion Biomédica de Málaga (IBIMA), Málaga, Spain. [Fernández-Carvajal] Instituto de Biología y Genetica Molecular (IBGM), Universidad de Valladolid, CSIC, Valladolid, Spain. [Ramos,FJ] Consulta de Genetica Clínica, Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain. [Hernández-Chico,C] Servicio de Genetica, Hospital Ramón y Cajal, Madrid, Spain. [Pintado,E] Servicio de Biología Molecular, Hospital Virgen Macarena y Universidad de Sevilla, Sevilla, Spain. [Rosell,J] Servicio de Genetica, Hospital Universitari Son Espases, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Palma de Mallorca, Illes Balears, Spain. [Calvo,MT] Unidad de Genetica Médica, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Ayuso,C] Servicio de Genetica, IIS-Hospital Universitario Fundacion Jiménez Díaz (IIS-FJD, UAM), CIBER de Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain. [Ramos-Arroyo,MA] Servicio de Genetica, Complejo Hospitalario de Navarra, Pamplona, Spain. [Milà,M] Servicio de Bioquímica y Genetica Molecular, Hospital Clinic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER-ISCIII), Barcelona, Spain.

المصدر: BioMed Research International, Vol 2014 (2014)
Digital.CSIC. Repositorio Institucional del CSIC
instname
BioMed Research International

مصطلحات موضوعية: Male, alelos, Síndrome del cromosoma X frágil, Fragile x, sistema de registros, humanos, España, adolescente, lcsh:Medicine, ComputingMilieux_LEGALASPECTSOFCOMPUTING, frecuencia génica, Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Gene Frequency, Intellectual disability, Registries, Child, Full mutation, mediana edad, síndrome del cromosoma X frágil, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Genetics, Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Testing [Medical Subject Headings], General Medicine, adulto, Middle Aged, Fragile X syndrome, Child, Preschool, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Female, Sistema de registros, Named Groups::Persons::Age Groups::Infant [Medical Subject Headings], Alelos, Pruebas genéticas, Research Article, Adult, Adolescent, Article Subject, Offspring, Genetic counseling, Check Tags::Male [Medical Subject Headings], Biology, Named Groups::Persons::Age Groups::Infant::Infant, Newborn [Medical Subject Headings], General Biochemistry, Genetics and Molecular Biology, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Humans, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders::Sex Chromosome Disorders::Fragile X Syndrome [Medical Subject Headings], pruebas genéticas, Genetic Testing, Allele, Alleles, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], Named Groups::Persons::Age Groups::Child [Medical Subject Headings], lactante, General Immunology and Microbiology, lcsh:R, Infant, Newborn, Infant, medicine.disease, Frecuencia génica, Check Tags::Female [Medical Subject Headings], Spain, Fragile X Syndrome, Data_GENERAL, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [Medical Subject Headings], Klinefelter syndrome, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]

وصف الملف: text/xhtml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97eca38d1b9b61dda9a5fad4a1b97db4Test
http://hdl.handle.net/10261/116865Test

المؤلفون: Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia, Universitat Autònoma de Barcelona

المساهمون: [Martín-Hernández,E, García-Silva,MT, Quijada Fraile,P] Pediatric Rares Diseases Unit, Metabolic and Mitochondrial Diseases, Pediatric Department, Hospital Universitario 12 de Octubre. Research Institute (i +12), Madrid, Spain. [Aldáiz-Echevarría,L: Sanjurjo-Crespo,P] H.U. de Cruces, Bilbao, Spain. [Castejón-Ponce,E, Meavilla,S] H. Sant Joan de Déu, Barcelona, Spain. [Pedrón-Giner,C] H.U. Infantil del Niño Jesús, Madrid, Spain. [Couce,ML] C.H.U. de Santiago, Santiago de Compostela, Spain. [Serrano-Nieto,J] H. Materno Infantil Carlos Haya, Málaga, Spain. [Pintos-Morell,G] H.U. Germans Trias i Pujol, Badalona, Spain. [Bélanger-Quintana,A, Martínez-Pardo,M] H.U. Ramón y Cajal, Madrid, Spain. [Vitoria-Miñana,I, Dalmau,J] H. Infantil La Fe, Valencia, Spain. [Lama-More, RA, Moráis,A] H.U. La Paz, Madrid, Spain. [Bueno-Delgado,MA] H.U. Virgen del Rocío, Sevilla, Spain. [del Toro-Riera-M] H. Vall d’Hebrón, Barcelona, Spain. [García-Jiménez,I] H.U. Miguel Servet, Zaragoza, Spain. [Sierra-Córcoles,C] C.H. de Jaén, Jaén, Spain. [Ruiz-Pons,M] H.U. Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain. [Peña-Quintana,LJ] H.U. Materno Infantil de Las Palmas, Las Palmas de Gran Canaria, Spain. [Vives-Piñera,I]H.C.U. Virgen de la Arrixaca, Murcia, Spain. [Balmaseda-Serrano,E] C.H.U. de Albacete, Albacete, Spain. [Pérez-Cerdá,C] CEDEM. Facultad de Ciencias, Universidad Autónoma de Madrid, Madrid, Spain.

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Pediatrics, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors [Medical Subject Headings], Estudios transversales, España, Argininosuccinate lyase, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], chemistry.chemical_compound, Argininosuccinic, Genetics(clinical), Pharmacology (medical), Child, Urea Cycle Disorders, Inborn, Genetics (clinical), Ornithine transcarbamylase deficiency, Trastornos innatos del ciclo de la urea, Carbamoylphosphate synthetase 1, Medicine(all), Persons::Persons::Age Groups::Infant [Medical Subject Headings], Ornithine transcarbamylase, Sodium phenylbutyrate, General Medicine, N-acetylglutamate synthase, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings], Argininosuccinic aciduria, Child, Preschool, Urea cycle, Female, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], medicine.drug, UCDs, Adult, medicine.medical_specialty, Adolescent, Check Tags::Male [Medical Subject Headings], Urea cycle disorders, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Young Adult, Internal medicine, medicine, Humans, Carglumic acid, Persons::Persons::Age Groups::Child [Medical Subject Headings], Persons::Persons::Age Groups::Adult [Medical Subject Headings], Survival rate, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], business.industry, Research, Citrullinemia, Carbamoylphosphate synthase 1, Infant, medicine.disease, Citrullinemia type 1, Arginase 1, Cross-Sectional Studies, Endocrinology, Check Tags::Female [Medical Subject Headings], chemistry, Spain, Argininosuccinate synthetase, business, Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb8904e9ac60345649f34b683d7ddffTest
https://ddd.uab.cat/record/185127Test

المؤلفون: Nerea Matamala, Salud Borrego, María González del Pozo, Javier Santoyo, Guillermo Antiñolo, Juan Ignacio Pieras, Isabel Barragan, Joaquín Dopazo, Belén Naranjo

المساهمون: [González-del Pozo,M, Borrego,S, Barragán,I, Pieras,JI, Matamala,N, Naranjo,B, Antiñolo,G] Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. [González-del Pozo,M, Santoyo,J, Dopazo,J, Antiñolo,G] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),Sevilla, Spain. [Santoyo,J, Antiñolo,G ] Medical Genome Project, Andalusian Center for Human Genomic Sequencing, Sevilla, Spain. [Santoyo,J, Dopazo,J] Departamento de Bioinformática y Genómica, Centro de Investigación Príncipe Felipe, Valencia, Spain. [Dopazo,J] Functional Genomics Node (INB), Valencia, Spain., Plan Nacional de Investigación Científica, Desarrollo e Innovación Tecnológica 2008–2011 (PN de I+D+I 2008–2011), Instituto de Salud Carlos III (ISCIII) –Subdirección General de Evaluación y Fomento de la Investigación, Fondo de Investigación Sanitaria (PI081131), Spain, Consejería de Innovación, Ciencia y Empresa (PI08- CTS-03687), Junta de Andalucía, Spain, El Centro de Investigación Biomédica en Red de Enfermedades Raras is an initiative of the ISCIII. This work is also partly supported by grants from projects BIO2008-04212 from the Spanish Ministry of Science and Innovation, PROMETEO/2010/001 from Generalitat Valenciana-Fondo Europeo de Desarrollo Regional (GVA-FEDER) and the Instituto Nacional de Bioinformática (INB)., Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla. Departamento de Bioquímica Vegetal y Biología Molecular

المصدر: PLoS ONE
Digital.CSIC. Repositorio Institucional del CSIC
instname
Plos One
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
PLoS ONE, Vol 6, Iss 12, p e27894 (2011)
idUS. Depósito de Investigación de la Universidad de Sevilla
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Pozo, M G, Borrego, S, Barragán, I, Pieras, J I, Santoyo, J, Matamala, N, Naranjo, B, Dopazo, J & Antiñolo, G 2011, ' Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing ', PLoS ONE, vol. 6, no. 12, e27894 . https://doi.org/10.1371/journal.pone.0027894Test

مصطلحات موضوعية: mutation detection, Microarray, genetic structures, Microarrays, substitution mutation, España, DNA Mutational Analysis, lcsh:Medicine, Polymerase Chain Reaction, Autosomal Recessive, Genome Sequencing, lcsh:Science, genetic screens, microarrays, Language, Oligonucleotide Array Sequence Analysis, Genetics, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Multidisciplinary, Genome, Análisis de Micromatrices, Genomics, Exons, Hispanic or Latino, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Eye Diseases, Hereditary::Retinitis Pigmentosa [Medical Subject Headings], Mutation (genetic algorithm), Medicine, Retinal Disorders, DNA microarray, Geographicals [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Chemistry Techniques, Analytical::Microchip Analytical Procedures::Microarray Analysis [Medical Subject Headings], Sequence Analysis, Retinitis Pigmentosa, Research Article, Mutation, Missense, Genetic Counseling, Biology, DNA sequencing, deletion mutation, Genomic Medicine, Genetic Mutation, Retinitis pigmentosa, Genetic variation, medicine, heterozygosity, Humans, Inherited Eye Disorders, Genetic Testing, Allele, Alleles, Clinical Genetics, lcsh:R, Mutation Types, Computational Biology, Genetic Variation, Reproducibility of Results, Human Genetics, medicine.disease, eye diseases, Introns, United States, Ophthalmology, Mutation, Genetics of Disease, lcsh:Q, homozygosity, Population Genetics, Genetic screen

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a3ea1eec926f66d8aa02496dad48b1Test
http://europepmc.org/articles/PMC3229495Test

المؤلفون: Salud Borrego, Manuel Jesus Acosta, Guillermo Antiñolo, Luis Castaño, Juan Carlos de Agustín, María Valle Enguix-Riego, Martina Marbá, Rocío Núñez-Torres, Raquel M. Fernández

المساهمون: [Nuñez-Torres R, Fernandez RM, Acosta MJ, Enguix-Riego MV, Antiñolo G, Borrego S] Unidad de Gestión Clínica de Genética,Reproducción y Medicina Fetal. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain.[Marbá M] Departamento de Genómica y Bioinformática. Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [de Agustin,JC] Unidad de Gestión Clínica de Cirugía Infantil, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Castaño L] Grupo de investigación en Endocrinología y Diabetes, Hospital de Cruces, Vizcaya, Spain., Fondo de Investigación Sanitaria, Spain (PI070080, PI1001290, and PI071315 for the E-Rare Project), Consejeria de Innovación Ciencia y Empresa de la Junta de Andalucia (CTS-2590), and Consejeria de Salud de la Junta de Andalucia (PI0249-2008)

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 138 (2011)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Male, endocrine system diseases, DNA Mutational Analysis, España, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Gene Frequency, Polymorphism (computer science), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Case-Control Studies [Medical Subject Headings], Análisis Mutacional de ADN, Genetics(clinical), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings], Genetics (clinical), Genetics, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Sex Characteristics, Estudios de Casos y Controles, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Digestive System Abnormalities::Hirschsprung Disease [Medical Subject Headings], Exons, Enhancer Elements, Genetic, Proto-Oncogene Proteins c-ret, Female, Research Article, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], lcsh:QH426-470, Context (language use), Biology, Enfermedad de Hirschsprung, Polymorphism, Single Nucleotide, Germline mutation, Humans, Hirschsprung Disease, Allele, lcsh:RC31-1245, Genotyping, Allele frequency, Alleles, Genetic Association Studies, Germ-Line Mutation, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings], Mutación, Genetic Complementation Test, Genetic Variation, Introns, Proteínas Proto-Oncogénicas c-ret, lcsh:Genetics, Spain, Case-Control Studies, Mutation, Polimorfismo de Nucleótido Simple, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins c-ret [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01521e683d1cbee6a3e3215910af02a9Test
https://hdl.handle.net/10668/292Test

المؤلفون: Begoña Olmos, Fátima Olea-Serrano, Juan Manuel Fernandez, José-Manuel Molina-Molina, Alicia Granada, Maria-Jose Lopez-Espinosa, Nicolás Olea, M. Cruz, Mariana F. Fernández

المساهمون: [Fernandez, M, Olmos, B, Granada, A, López-Espinosa, MJ, Molina-Molina, JM, Olea, N.] Laboratory of Medical Investigations. [Fernandez, JM] Department of Pediatric, San Cecilio University Hospital, Granada, Spain. [Cruz, M.] Department of Gynecology and Obstetrics, San Cecilio University Hospital, Granada, Spain. [Olea-Serrano,F.] Department of Nutrition, University of Granada, Granada, Spain

المصدر: Digibug. Repositorio Institucional de la Universidad de Granada
instname
Environmental Health Perspectives

مصطلحات موضوعية: Male, Placenta, Health, Toxicology and Mutagenesis, España, Physiology, Endocrine Disruptors, Disruptores Endocrinos, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Hospitals, University, Technology, Industry, Agriculture::Technology, Industry, and Agriculture::Agriculture [Medical Subject Headings], Hospitales Universitarios, Recién Nacido, Pregnancy, Risk Factors, Surveys and Questionnaires, Cryptorchidism, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure::Maternal Exposure [Medical Subject Headings], Hydrocarbons, Chlorinated, environmental estrogens, Medicine, Cuestionarios, Masculino, Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy [Medical Subject Headings], Factores de Riesgo, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Hypospadias, Monograph, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies [Medical Subject Headings], Adulto, Agricultura, Femenino, Estudios de Casos y Controles, Agriculture, Occupational exposure, hypo-spadias, Estrógenos, Humanos, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Estrogens [Medical Subject Headings], Endocrine disruptor, Maternal Exposure, Paternal Exposure, Cohort, Female, Exposición Profesional, Exposición Paterna, Chemicals and Drugs::Organic Chemicals::Hydrocarbons::Hydrocarbons, Halogenated::Hydrocarbons, Chlorinated [Medical Subject Headings], Cohort study, Adult, medicine.medical_specialty, Embarazo, medicine.drug_class, Criptorquidismo, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure::Paternal Exposure [Medical Subject Headings], Check Tags::Male [Medical Subject Headings], Named Groups::Persons::Age Groups::Infant::Infant, Newborn [Medical Subject Headings], Diseases::Male Urogenital Diseases::Genital Diseases, Male::Penile Diseases::Hypospadias [Medical Subject Headings], Information Science::Information Science::Data Collection::Questionnaires [Medical Subject Headings], Health Care::Health Care Facilities, Manpower, and Services::Health Facilities::Academic Medical Centers::Hospitals, Teaching::Hospitals, University [Medical Subject Headings], Residuos de Plaguicidas, Chemicals and Drugs::Chemical Actions and Uses::Toxic Actions::Pesticides::Pesticide Residues [Medical Subject Headings], Occupational Exposure, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], Humans, Endocrine system, endocrine-disrupting chemicals, Hipospadias, Gynecology, Endocrine-disrupting chemicals, Environmental estrogens, business.industry, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Endocrine Disruptors [Medical Subject Headings], Infant, Newborn, Pesticide Residues, Public Health, Environmental and Occupational Health, Estrogens, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure::Occupational Exposure [Medical Subject Headings], Androgen, medicine.disease, Anatomy::Embryonic Structures::Placenta [Medical Subject Headings], Check Tags::Female [Medical Subject Headings], Risk factors, Spain, Case-Control Studies, Nested case-control study, Hidrocarburos Clorados, business, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Cryptorchidism [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1a79a5618139b0e64721668f08a2aceTest
http://hdl.handle.net/10481/24822Test

المؤلفون: Constancio Medrano, Luis Garcia-Guereta, Fuensanta Escudero, Victorio Cuenca, Manuel Luque, Jaume Casaldaliga, Fernando Ballesteros, Maite Luis, Pedro Suarez, Josefina Grueso, Beatriz Insa, Fredy Prada, Concepción Quero, Magda Guilera, Maria del Mar Rodríguez, Lola Garcia de la Calzada, Alberto Mendoza

المساهمون: The CIVIC Study Group from the Spanish Society of Pediatric Cardiology and Congenital Heart Disease, [Medrano,C] Hospital Juan Canalejo, A Coruña. [Garcia-Guereta,L] Hospital La Paz, Madrid. [Grueso,J] Hospital Virgen del Rocio, Sevilla. [Insa,B] Hospital La Fe, Valencia. [Ballesteros,F] Hospital Gregorio Marañon, Madrid. [Casaldaliga,J] Hospital Vall d’Hebron, Barcelona. [Cuenca,V] Hospital Carlos Haya, Malaga. [Escudero,F] Hospital Virgen de la Arrixaca, Murcia. [Garcia de la Calzada,L] Hospital Miguel Server (sic), Zaragoza. [Luis,M] Hospital de Cruces, Baracaldo. [Luque,M] Hospital Reina Sofia, Cordoba. [Mendoza,A] Hospital 12 de Octubre, Madrid. [Prada,F] Hospital Sant Joan de Deu, Barcelona. [Rodríguez,M del M] Hospital Virgen de las Nieves, Granada. [Suarez,P] Hospital Materno Infantil, Las Palmas de Gran Canaria. [Quero,C] Hospital Ramon y Cajal, Madrid. [Guilera,M] Health Outcomes Research Europe, Barcelona, Spain., This study was sponsored by the Spanish Society of Paediatric Cardiology and Congenital Heart Disease, and supported by an unrestrictive grant from Abbott Laboratories SA, Spain

المصدر: Cardiology in the young. 17(4)

مصطلحات موضوعية: Male, Pediatrics, Trisomy 21, Infecciones por virus sincitial respiratorio, Haemodynamically significant, respiratory syncytial virus, España, Diseases::Virus Diseases::RNA Virus Infections::Mononegavirales Infections::Paramyxoviridae Infections::Pneumovirus Infections::Respiratory Syncytial Virus Infections [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Cohort Studies, Risk Factors, Epidemiology, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Cardiovascular Abnormalities::Heart Defects, Congenital [Medical Subject Headings], Acute respiratory tract infection, Respiratory Tract Infections, Cardiopatías congénitas, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Respiratory tract infections, Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Age Factors [Medical Subject Headings], Incidence, Respiratory disease, Age Factors, Respiratory infection, General Medicine, Hospitalization, Infecciones por Haemophilus, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Patient Care::Hospitalization [Medical Subject Headings], Diseases::Respiratory Tract Diseases::Respiratory Tract Infections [Medical Subject Headings], Female, Named Groups::Persons::Age Groups::Infant [Medical Subject Headings], Cardiology and Cardiovascular Medicine, Congenitally malformed hearts, Heart Defects, Congenital, medicine.medical_specialty, Haemophilus Infections, Estudios de cohortes, Check Tags::Male [Medical Subject Headings], Respiratory Syncytial Virus Infections, Pneumococcal Infections, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Incidence [Medical Subject Headings], medicine, Humans, Diseases::Bacterial Infections and Mycoses::Bacterial Infections::Gram-Negative Bacterial Infections::Pasteurellaceae Infections::Haemophilus Infections [Medical Subject Headings], business.industry, Infant, Odds ratio, medicine.disease, Pneumonia, Check Tags::Female [Medical Subject Headings], Bronchiolitis, Spain, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies [Medical Subject Headings], Pediatrics, Perinatology and Child Health, business, Diseases::Bacterial Infections and Mycoses::Bacterial Infections::Gram-Positive Bacterial Infections::Streptococcal Infections::Pneumococcal Infections [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ad4f6bb37dea67656a304d3668fb14Test
https://pubmed.ncbi.nlm.nih.gov/17662160Test